Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is the most common form of motor neuron disease, affecting approximately 2 per 100,000 individuals, with the prevalence rates of about 1-2 per 10,000.
A definitive diagnosis of ALS is given according to the criteria of El Escorial. This process can take several months as other potential (less severe) causes of disease are considered before a final diagnosis of ALS is given.
ALS attacks the motor neurons of the brain and spinal cord. These neurons are responsible for voluntary muscle movements such as talking, walking, swallowing and breathing. Disease generally starts as a mild muscle weakness that progresses to paralysis and eventual death, usually within 2-5 years from diagnosis. Currently there is no cure and no truly effective treatment, riluzole being the only currently available FDA-approved medication for ALS.
Pathology of ALS
At autopsy, the spinal cord and affected brain regions of individuals with ALS display a number of distinguishing features. The most characteristic pathological marker of ALS is the presence of ubiquitinated inclusion bodies in affected motor neurons. A key component of these inclusions is TDP-43, with the intermediate filament protein, peripherin, also frequently observed.